Neonatal intrahepatic cholestasis caused by citrin deficiency with no hepatic steatosis: a case report.

BACKGROUND: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a common form of neonatal jaundice. Histopathological examination of the liver in patients with NICCD typically shows fatty liver, steatohepatitis, and liver fibrosis. Jaundice and fatty liver often improve by 1 year of age. We herein describe a girl who was diagnosed with NICCD based on an SLC25A13 mutation, although no fatty deposits were found on pathologic examination of the liver. CASE PRESENTATION: The patient in this case was a 3-month-old girl. At 2 months of age, she presented with jaundice, discolored stools, and poor weight gain and was found to have hyperbilirubinemia. Cholangiography revealed that she did not have biliary atresia. A laparoscopic liver biopsy was performed, and liver histopathology showed no fatty deposits. Genetic analysis revealed a compound heterozygous mutation in SLC25A13, and she was diagnosed with NICCD. She was given medium-chain triglyceride milk and gained weight. She resumed consumption of normal milk and breast milk, and her stool color improved. She was discharged at 4 months of age with adequate weight gain and a lower total bilirubin concentration. She was in good condition after discharge and showed normal development at the time of outpatient follow-up. CONCLUSIONS: We experienced a case of NICCD in a patient without fatty liver. This case illustrates that the absence of hepatic steatosis in neonatal cholestasis does not rule out NICCD.

Bacteremia Caused by Kalamiella piersonii Found in an Infant During the Course of Gastrointestinal Food Allergy.

Kalamiella piersonii is rare pathogen, and its pathogenicity to humans has been unknown. We describe an infant with bacteremia caused by Kalamiella piersonii. The patient was a 2-month-old girl presented with diarrhea, poor oral intake, and vomiting. The patient was tentatively diagnosed with acute enterocolitis. After admission, the patient developed a fever and blood culture yielded Gram-negative cocci, first determined to be Pantoea septica by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. However, genetic analysis of 16S rRNA allowed its identification as Kalamiella piersonii (GenBank accession number is OQ547240). Other housekeeping genes such as gyrB, rpoB, and atpD also identified the isolated strain as Kalamiella piersonii. The patient was successfully treated with cefotaxime without sequelae. Later, the patient was diagnosed as non-IgE-mediated gastrointestinal food allergy. Our experience indicated that Kalamiella piersonii is a potential human pathogen that can cause invasive infections even in infants and children. Identification of Kalamiella piersonii is difficult with routine conventional tests, and detailed studies including genetic analyses are necessary to clarify the pathogenicity of Kalamiella piersonii in humans.